Search

Your search keyword '"Ingrid M.B.H. van de Laar"' showing total 2 results
Start Over Author "Ingrid M.B.H. van de Laar" Journal genetics in medicine
2 results on '"Ingrid M.B.H. van de Laar"'

1. Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort

Author

Lisa M. van den Bersselaar, Judith M.A. Verhagen, Jos A. Bekkers, Marlies Kempers, Arjan C. Houweling, Marieke Baars, Eline Overwater, Yvonne Hilhorst-Hofstee, Daniela Q.C.M. Barge-Schaapveld, Eline Rompen, Ingrid P.C. Krapels, Eelco Dulfer, Marja W. Wessels, Bart L. Loeys, Hence J.M. Verhagen, Alessandra Maugeri, Jolien W. Roos-Hesselink, Hennie T. Brüggenwirth, Ingrid M.B.H. van de Laar, Human genetics, ACS - Atherosclerosis & ischemic syndromes, CCA - Cancer Treatment and quality of life, CCA - Cancer biology and immunology, MUMC+: DA KG Polikliniek (9), RS: Carim - H02 Cardiomyopathy, Clinical Genetics, Cardiothoracic Surgery, Erasmus MC other, Surgery, Cardiology, Human Genetics, ACS - Amsterdam Cardiovascular Sciences, Graduate School, ACS - Heart failure & arrhythmias, and ARD - Amsterdam Reproduction and Development

Subjects
Adult, Male, THORACIC AORTIC-ANEURYSMS, ACTA2 MUTATION, Smooth muscle α-actin, Aortic dissection, AMERICAN-COLLEGE, DISEASE, Cohort Studies, All institutes and research themes of the Radboud University Medical Center, Thoracic aortic aneurysm, Humans, CARDIOVASCULAR-ANGIOGRAPHY, INTERVENTIONAL-RADIOLOGY, ASSOCIATION TASK-FORCE, DISSECTION, Smooth muscle alpha-actin, Aorta, Genetics (clinical), Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], INTERNATIONAL REGISTRY, Aortic Aneurysm, Thoracic, Middle Aged, Actins, PRACTICE GUIDELINES, Mutation, Human medicine
Abstract

Purpose: Heterozygous pathogenic/likely pathogenic (P/LP) variants in the ACTA2 gene confer a high risk for thoracic aortic aneurysms and aortic dissections. This retrospective multicenter study elucidates the clinical outcome of ACTA2-related vasculopathies. Methods: Index patients and relatives with a P/LP variant in ACTA2 were included. Data were collected through retrospective review of medical records using a standardized questionnaire. Results: A total of 49 individuals from 28 families participated in our study. In total, 20 different ACTA2 variants were detected. Aortic events occurred in 65% of the cases (78.6% index patients and 47.6% relatives). Male sex and hypertension emerged as significantly associated with aortic events. Of 20 individuals, 5 had an aortic diameter of

Published
2022
Full Text
View/download PDF

2. Cardiovascular malformations caused by NOTCH1 mutations do not keep left

Author

Ingrid M.E. Frohn-Mulder, Rolf M. F. Berger, Robert M.W. Hofstra, Jolien W. Roos-Hesselink, Wilhelmina S. Kerstjens-Frederikse, Klaske D. Lichtenbelt, Ingrid M.B.H. van de Laar, Jolien S. Klein Wassink-Ruiter, Marja W. Wessels, Yvonne J. Vos, Johan H P Janssen, Joost P. van Melle, Karin Y. van Spaendonck-Zwarts, C. M. Bilardo, Paul A. van der Zwaag, Judith M.A. Verhagen, Klasien A. Bergman, Gideon J. du Marchie Sarvaas, Cardiovascular Centre (CVC), Vascular Ageing Programme (VAP), Reproductive Origins of Adult Health and Disease (ROAHD), Clinical Genetics, Cardiology, and Pediatrics

Subjects
Male, 0301 basic medicine, Aortic valve, Heart disease, VARIANTS, DISEASE, Hypoplastic left heart syndrome, Bicuspid aortic valve, bicuspid, NOTCH1, Receptor, Notch1, Child, Aorta, Genetics (clinical), NEURAL CREST, hypoplastic left heart syndrome, Middle Aged, Penetrance, aortic valve, Pedigree, medicine.anatomical_structure, Child, Preschool, Aortic valve stenosis, Cardiology, cardiovascular system, HYPOPLASTIC LEFT-HEART, Female, Haploinsufficiency, INTEGRATION, Adult, Heart Defects, Congenital, medicine.medical_specialty, Adolescent, Coarctation of the aorta, ADAMS-OLIVER SYNDROME, aortic coarctation, HAPLOINSUFFICIENCY, 03 medical and health sciences, Internal medicine, CARDIAC ANOMALIES, medicine, Journal Article, Humans, BICUSPID AORTIC-VALVE, cardiovascular diseases, Aged, Heart Failure, Aortic Aneurysm, Thoracic, IDENTIFICATION, business.industry, medicine.disease, 030104 developmental biology, Mutation, business
Abstract

Purpose: We aimed to determine the prevalence and phenotypic spectrum of NOTCH1 mutations in left-sided congenital heart disease (LS-CHD). LS-CHD includes aortic valve stenosis, a bicuspid aortic valve, coarctation of the aorta, and hypoplastic left heart syndrome.Methods: NOTCH1 was screened for mutations in 428 nonsyndromic probands with LS-CHD, and family histories were obtained for all. When a mutation was detected, relatives were also tested.Results: In 148/428 patients (35%), LS-CHD was familial. Fourteen mutations (3%; 5 RNA splicing mutations, 8 truncating mutations, 1 whole-gene deletion) were detected, 11 in familial disease (11/148 (7%)) and 3 in sporadic disease (3/280 (1%)). Forty-nine additional mutation carriers were identified among the 14 families, of whom 12 (25%) were asymptomatic. Most of these mutation carriers had LS-CHD, but 9 (18%) had right-sided congenital heart disease (RS-CHD) or conotruncal heart disease (CTD). Thoracic aortic aneurysms (TAAs) occurred in 6 mutation carriers (probands included 6/63 (10%)).Conclusion: Pathogenic mutations in NOTCH1 were identified in 7% of familial LS-CHD and in 1% of sporadic LS-CHD. The penetrance is high; a cardiovascular malformation was found in 75% of NOTCH1 mutation carriers. The phenotypic spectrum includes LS-CHD, RS-CHD, CTD, and TAA. Testing NOTCH1 for an early diagnosis in LS-CHD/RS-CHD/CTD/TAA is warranted.

Published
2016

Catalog

Books, media, physical & digital resources
See catalog results